Gene Variant Detail

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Gene VHL
Variant F76Afs*80
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions VHL F76Afs*80 indicates a shift in the reading frame starting at amino acid 76 and terminating 80 residues downstream causing a premature truncation of the 213 amino acid Vhl protein (UniProt.org). F76Afs*80 has not been characterized, however, due to the effects of other truncation mutations downstream of F76 (PMID: 14691445), is predicted to lead to a loss of Vhl protein function.
Associated Drug Resistance
Category Variants Paths

VHL mutant VHL inact mut VHL F76Afs*80

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Transcript NM_000551.3
gDNA chr3:g.(10142073_10149791)
cDNA c.(226_468)
Protein p.F76Afs*80
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000551.3 chr3:g.(10142073_10149791) c.(226_468) p.F76Afs*80 RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
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Molecular Profile Protein Effect Treatment Approaches
VHL F76Afs*80 loss of function - predicted